WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs756248900
gnomAD v2:
19-1047519-A-AGGGCGCGCAGTG
gnomAD v3:
19-1047520-A-AGGGCGCGCAGTG
gnomAD v4:
19-1047520-A-AGGGCGCGCAGTG
MyVariant Identifiers:
chr19:g.1047519_1047520insGGGCGCGCAGTG (hg19)
chr19:g.1047520_1047521insGGGCGCGCAGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1047522_1047533dup , CM000681.2:g.1047522_1047533dup | GRCh38 |
| NC_000019.9:g.1047521_1047532dup , CM000681.1:g.1047521_1047532dup | GRCh37 |
| NC_000019.8:g.998521_998532dup | NCBI36 |
| NG_046909.1:g.12420_12431dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263094.11:c.2137_2148dup MANE Select | ENSP00000263094.6:p.Trp716_His717insGlyAl... | |
| ENST00000433129.6:n.2817_2828dup | ||
| ENST00000263094.10:c.2137_2148dup | ENSP00000263094.6:p.Trp716_His717insGlyAl... | |
| ENST00000433129.5:c.2137_2148dup | ENSP00000414062.1:p.Trp716_His717insGlyAl... | |
| ENST00000435683.6:c.1723_1734dup | ENSP00000465322.1:p.Trp578_His579insGlyAl... | |
| ENST00000533574.1:n.555_566dup | ||
| NM_019112.3:c.2137_2148dup | NP_061985.2:p.Trp716_His717insGlyAlaGlnTr... | |
| XM_006722616.1:c.2137_2148dup | XP_006722679.1:p.Trp716_His717insGlyAlaGl... | |
| XM_006722617.2:c.2137_2148dup | XP_006722680.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527628.1:c.2137_2148dup | XP_011525930.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527629.1:c.2137_2148dup | XP_011525931.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527630.1:c.2137_2148dup | XP_011525932.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527631.1:c.2137_2148dup | XP_011525933.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527632.1:c.1681_1692dup | XP_011525934.1:p.Trp564_His565insGlyAlaGl... | |
| XM_011527633.1:c.2137_2148dup | XP_011525935.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527634.1:c.2137_2148dup | XP_011525936.1:p.Trp716_His717insGlyAlaGl... | |
| XM_011527635.1:c.2137_2148dup | XP_011525937.1:p.Trp716_His717insGlyAlaGl... | |
| XR_936148.1:n.2355_2366dup | ||
| XR_936149.1:n.2355_2366dup | ||
| XR_936150.1:n.2355_2366dup | ||
| XR_936151.1:n.2355_2366dup | ||
| XR_936152.1:n.2355_2366dup | ||
| XR_936153.1:n.2355_2366dup | ||
| XR_936154.1:n.2355_2366dup | ||
| XR_936155.1:n.2355_2366dup | ||
| XM_011527633.2:c.2137_2148dup | XP_011525935.1:p.Trp716_His717insGlyAlaGl... | |
| XM_017026143.1:c.2137_2148dup | XP_016881632.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451315.1:c.2137_2148dup | XP_024307083.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451316.1:c.2137_2148dup | XP_024307084.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451317.1:c.2137_2148dup | XP_024307085.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451318.1:c.2137_2148dup | XP_024307086.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451319.1:c.2137_2148dup | XP_024307087.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451320.1:c.2137_2148dup | XP_024307088.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451321.1:c.2137_2148dup | XP_024307089.1:p.Trp716_His717insGlyAlaGl... | |
| XM_024451322.1:c.1681_1692dup | XP_024307090.1:p.Trp564_His565insGlyAlaGl... | |
| XM_024451323.1:c.2137_2148dup | XP_024307091.1:p.Trp716_His717insGlyAlaGl... | |
| XR_001753585.1:n.2355_2366dup | ||
| XR_001753586.1:n.2355_2366dup | ||
| XR_002958240.1:n.2355_2366dup | ||
| XR_002958241.1:n.2355_2366dup | ||
| XR_002958242.1:n.2355_2366dup | ||
| NM_019112.4:c.2137_2148dup MANE Select | NP_061985.2:p.Trp716_His717insGlyAlaGlnTr... |